| Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... |
OMIM:615127 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... |
OMIM:619964 |
| Epilepsy, Benign Occipital |
|
Seizure, EEG abnormality |
OMIM:132090 |
| Epilepsy, Reading |
|
Seizure, EEG abnormality |
OMIM:132300 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Involuntary movements, Aggressive behavior, EEG abnormality, Stat... |
OMIM:617171 |
| Bilateral Frontal Polymicrogyria |
|
Hemiparesis, Seizure, Spastic tetraparesis, EEG abnormality |
ORPHA:208444 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener... |
OMIM:601068 |
| Infantile Spasms Syndrome |
|
Myoclonus, Infantile spasms, Hypsarrhythmia |
ORPHA:3451 |
| Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hy... |
OMIM:619970 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG... |
OMIM:613608 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure |
OMIM:611364 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... |
OMIM:614417 |
| Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... |
OMIM:615006 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... |
OMIM:615400 |
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Restlessness, Bilateral tonic-clonic seizure, Clumsiness, EEG abnormality, Irritability, Focal im... |
OMIM:610003 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Generalized-onset seizure, Focal-onset seizure, Hand tremor, EEG abnormality, Myoclonus |
ORPHA:86814 |
| Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, EEG with generalized epileptiform discharges, Myo... |
OMIM:616187 |
| Continuous Spikes And Waves During Sleep |
|
Interictal epileptiform activity, EEG with frontal focal spike waves, EEG with centrotemporal foc... |
ORPHA:725 |
| Epilepsy, Myoclonic Juvenile |
|
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... |
OMIM:254770 |
| Cerebellar Atrophy, Developmental Delay, And Seizures |
|
EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:617643 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, EEG abno... |
ORPHA:2382 |
| Angelman syndrome (Type 1) |
|
Seizure, Truncal ataxia, EEG abnormality |
DECIPHER:4 |
| Angelman syndrome (Type 2) |
|
Seizure, Truncal ataxia, EEG abnormality |
DECIPHER:54 |
| Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Agg... |
ORPHA:86909 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Bilateral tonic-clonic seizure, Seizure, EEG abnormality, Truncal ataxia, A... |
OMIM:608636 |
| Cortical Malformations, Occipital |
|
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
| Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Depression, Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus |
OMIM:603204 |
| Developmental And Epileptic Encephalopathy 12 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythm... |
OMIM:613722 |
| Centralopathic Epilepsy |
|
Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi... |
OMIM:117100 |
| Progressive Myoclonic Epilepsy Type 1 |
|
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten... |
ORPHA:308 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Impulsivity, Myoclonic s... |
OMIM:617113 |
| Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Speech apraxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... |
OMIM:245570 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor ... |
OMIM:254800 |
| Juvenile Myoclonic Epilepsy |
|
EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure... |
ORPHA:307 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Seizure, Ataxia, Myoclonus, EEG abnormality |
OMIM:600143 |
| Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, EEG abnormality, Myoclonus, Atypical abse... |
OMIM:617391 |
| Hereditary Geniospasm |
|
EEG abnormality, Chin myoclonus, Intention tremor |
ORPHA:53372 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Rigidity, Seizure, Myoclonus, Giant somatosensory evoked potentials, Intention tremor |
OMIM:618876 |
| Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, EEG w... |
ORPHA:139431 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked p... |
OMIM:608105 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:617831 |
| Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ... |
OMIM:615369 |
| Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Speech apraxia, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with fo... |
ORPHA:163721 |
| Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Aggressive behavior, Typical abs... |
OMIM:616409 |
| Landau-Kleffner Syndrome |
|
Gait ataxia, Non-convulsive status epilepticus without coma, Hyperactivity, EEG with frontal foca... |
ORPHA:98818 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Seizure, Abnormal nervous system electrophysiology, Ataxia, Myoclonus |
OMIM:204500 |
| Early Myoclonic Encephalopathy |
|
Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ... |
ORPHA:1935 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... |
OMIM:618587 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
EEG with polyspike wave complexes, Episodic ataxia, Bilateral tonic-clonic seizure, EEG with spik... |
OMIM:607682 |
| Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
| Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
| Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Hyp... |
OMIM:616139 |
| Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... |
ORPHA:599373 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Myoclonic seizure, Depression, Seizure, Abn... |
OMIM:162350 |
| Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Generalized myoclonic seizure, Abnormal ... |
OMIM:616341 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
| Developmental And Epileptic Encephalopathy 59 |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Multifocal epileptiform ... |
OMIM:617904 |
| Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Clonic seizure, EEG with burst suppression, Status epilepticus, G... |
OMIM:266100 |
| Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... |
OMIM:616346 |
| Juvenile Absence Epilepsy |
|
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... |
ORPHA:1941 |
| Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Myoclonic se... |
OMIM:617389 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... |
OMIM:618357 |
| Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Truncal ataxia, Myoclonus, Atypi... |
OMIM:613855 |
| Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... |
OMIM:614018 |
| Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... |
OMIM:616366 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Aggressive behavior, Focal tonic seizure, Limb tremor, Seizure, Self-injurious behavior, Hyperton... |
OMIM:300699 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Limb ataxia, Choreoathetosis, ... |
OMIM:616230 |
| Myoclonus-Dystonia Syndrome |
|
Torticollis, Depression, Myoclonus, Compulsive behaviors, Spinal myoclonus, Limb myoclonus |
ORPHA:36899 |
| Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
| Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
| Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:600131 |
| Febrile Seizures, Familial, 8 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:607681 |
| Lissencephaly 10 |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... |
OMIM:618873 |
| Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:300088 |
| Developmental And Epileptic Encephalopathy 69 |
|
Spastic tetraplegia, Hypsarrhythmia, EEG abnormality, Hyperkinetic movements, Status epilepticus,... |
OMIM:618285 |
| Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... |
ORPHA:101071 |
| Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... |
OMIM:613721 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... |
OMIM:300425 |
| Seizures, Benign Familial Infantile, 3 |
|
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... |
OMIM:607745 |
| Developmental And Epileptic Encephalopathy 98 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... |
OMIM:619605 |
| Familial Focal Epilepsy With Variable Foci |
|
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz... |
ORPHA:98820 |
| Benign Familial Neonatal Epilepsy |
|
Focal EEG discharges with secondary generalization, Simple febrile seizure, Clonus, Focal-onset s... |
ORPHA:1949 |
| Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Seizure, Myoclonus |
OMIM:217200 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... |
OMIM:619000 |
| Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus |
OMIM:208700 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Generalized non-motor (... |
OMIM:619157 |
| Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, EEG abnormality, Hemiparesis, Myoclon... |
OMIM:606777 |
| Unilateral Focal Polymicrogyria |
|
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... |
ORPHA:268947 |
| Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Choreoathetosis, Irritability... |
OMIM:609056 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Bilateral tonic-clonic seizure, Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... |
OMIM:607876 |
| Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Depression, Abnormality of extrapyra... |
OMIM:204300 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus |
ORPHA:22 |
| Epilepsy, Familial Adult Myoclonic, 7 |
|
Seizure, Myoclonic tremor |
OMIM:618075 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
| Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Depression, Myoclonus, Compulsive behaviors |
OMIM:159900 |
| Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) seizure, E... |
OMIM:609446 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure |
OMIM:611092 |
| Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Seizure, EEG abnormality, Myoclonus, Spasticity |
OMIM:617829 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... |
ORPHA:79137 |
| Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Torticollis, Bilateral tonic-clonic seizure, Seizure, EEG abnormality, Myoclonic absence seizure |
OMIM:612621 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
| Polymyoclonus, Infantile |
|
Irritability, Ataxia, Myoclonus |
OMIM:263550 |
| Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... |
OMIM:617106 |
| Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, ... |
OMIM:619639 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ... |
OMIM:615362 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... |
ORPHA:36387 |
| Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
| Restless Legs Syndrome, Susceptibility To, 1 |
|
Restless legs, Myoclonus |
OMIM:102300 |
| Benign Familial Neonatal-Infantile Seizures |
|
Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, EEG with focal spikes, Focal cloni... |
ORPHA:140927 |
| Hemimegalencephaly |
|
EEG with polyspike wave complexes, Interictal EEG abnormality, Epileptic spasm, EEG with burst su... |
ORPHA:99802 |
| Dravet Syndrome |
|
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S... |
ORPHA:33069 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG discharges with secondary g... |
ORPHA:263516 |
| Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure |
OMIM:617080 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Depression, Myoclonus, Attention deficit hyper... |
OMIM:619191 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... |
OMIM:607373 |
| Autism |
|
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... |
OMIM:209850 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
| Developmental And Epileptic Encephalopathy 40 |
|
Spastic tetraparesis, Hypsarrhythmia, Choreoathetosis, Seizure, Myoclonus, Spasticity |
OMIM:617065 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Abnormal nervous system electrophysiology, D... |
OMIM:256731 |
| Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
| Polymicrogyria, Bilateral Temporooccipital |
|
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Focal i... |
OMIM:612691 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Generalized non-motor... |
OMIM:271980 |
| Nodular Neuronal Heterotopia |
|
Seizure, EEG abnormality |
ORPHA:2149 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Epileptic spasm, Ataxia, EEG with burst suppression, Spastic tetraplegia, Seizure, Myoclonus, Att... |
OMIM:619971 |
| Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior |
OMIM:617709 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv... |
ORPHA:101039 |
| Progressive Myoclonic Epilepsy With Dystonia |
|
EEG with irregular generalized spike and wave complexes, Abnormal pyramidal sign, Hemiparesis, St... |
ORPHA:352596 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Up... |
ORPHA:401901 |
| Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure... |
OMIM:619913 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, EEG abnormality, Generali... |
OMIM:617836 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Focal-onset seizure, Chorea, EEG abnormality, Self-injurious behavior, Convulsive status epilepti... |
OMIM:618760 |
| Seizures, Benign Familial Infantile, 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... |
OMIM:601764 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure |
OMIM:612437 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... |
OMIM:616540 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Depression, Seizure, EEG abnormality, Irritability, Myoclonus, Spasticity |
OMIM:256730 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
ORPHA:275864 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Epileptic spasm, Chorea, Myoclonic seizure, Seizure, EEG abnormality, Hyperkinetic movements, Foc... |
OMIM:614254 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Seizure, EEG abnormality, Hypertonia, Status epilepti... |
ORPHA:71277 |
| Ceroid Lipofuscinosis, Neuronal, 6A |
|
Seizure, Abnormal nervous system electrophysiology |
OMIM:601780 |
| Parasomnia, Sleep Bruxism Type |
|
Myoclonus, Bruxism |
OMIM:606840 |
| Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
| Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... |
ORPHA:1945 |
| Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, EEG with burst suppression, Myoclo... |
OMIM:617290 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... |
ORPHA:208441 |
| Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Chorea, Seizure, Athe... |
ORPHA:382 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraparesis, A... |
OMIM:604317 |
| Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
| Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... |
OMIM:607208 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Babinski sign, Seizure, EEG abnormality, Disinhibition, Myoclonus, Apraxia |
OMIM:618193 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
| Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... |
OMIM:616421 |
| Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus |
OMIM:125370 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Tremor, Rigid... |
OMIM:612736 |
| Developmental And Epileptic Encephalopathy 37 |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ... |
OMIM:616981 |
| Creutzfeldt-Jakob Disease |
|
Extrapyramidal muscular rigidity, Depression, Hemiparesis, Gait ataxia, Irritability, Myoclonus |
OMIM:123400 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Multifocal epile... |
OMIM:617493 |
| Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... |
OMIM:615871 |
| Pontocerebellar Hypoplasia, Type 1E |
|
EEG with burst suppression, Myoclonus |
OMIM:619303 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with multifocal slow ac... |
ORPHA:289266 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements |
OMIM:618425 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Dysmetria, Myocl... |
OMIM:617810 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Irritability, Myoclonus |
OMIM:605899 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Seizure, Irritability, Hypertonia, Myoclonus, Dysphagia |
OMIM:261630 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressiv... |
ORPHA:485350 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:619827 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
| Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
| Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Multifocal e... |
OMIM:617711 |
| Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
| Yoon-Bellen Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Generalized myoclonic-atonic seizure, H... |
OMIM:619701 |
| Rasmussen Subacute Encephalitis |
|
EEG with focal spikes, Interictal epileptiform activity, Hyperactivity, Bilateral tonic-clonic se... |
ORPHA:1929 |
| Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Bilateral tonic-clonic seizure, Involuntary movements, Multifocal epileptiform discharges, Seizur... |
ORPHA:209370 |
| Kohlschutter-Tonz Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Hypsarrhythmia, Myoclonic seizure, S... |
OMIM:226750 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... |
ORPHA:79262 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Ataxia, Clonus, Rigidity, Chorea, Dysphagia, Hypsarrhythmia, Opisthotonus, Seizure,... |
ORPHA:13 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo... |
OMIM:607317 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, Dysphagia, Spastic dysarth... |
ORPHA:313772 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity |
OMIM:545000 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Chorea, EEG abnormality, Seizure, Focal impaired awareness seizur... |
OMIM:613970 |
| Familial Infantile Myoclonic Epilepsy |
|
Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener... |
ORPHA:352582 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Spasticity |
OMIM:615924 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Generalized-onset seizure, Ataxia, Tremor, Chorea, Dysmetria, Clumsin... |
ORPHA:79263 |
| Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
| Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Tremor, Typ... |
ORPHA:2590 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior |
OMIM:309530 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Choreoathetosi... |
OMIM:618497 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hypsarrhythmia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... |
OMIM:618856 |
| Developmental And Epileptic Encephalopathy 1 |
|
Infantile spasms, Tonic seizure, Spastic tetraparesis, Focal-onset seizure, EEG with burst suppre... |
OMIM:308350 |
| Developmental And Epileptic Encephalopathy 47 |
|
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, Multifocal epileptifo... |
OMIM:617166 |
| Developmental And Epileptic Encephalopathy 41 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Babinski sign, Focal tonic seizure, Myoclonic se... |
OMIM:617105 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, EEG with generalize... |
ORPHA:168491 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Agitation, Myoclonus, Compulsive behaviors |
OMIM:619651 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
| Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... |
OMIM:620145 |
| Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Seizure, G... |
OMIM:605021 |
| Developmental And Epileptic Encephalopathy 90 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Babinski sign, H... |
OMIM:301058 |
| Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, EEG w... |
OMIM:617976 |
| Developmental And Epileptic Encephalopathy 23 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Focal impaired a... |
OMIM:615859 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Fasc... |
ORPHA:95434 |
| Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Episo... |
OMIM:618924 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
| Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
| Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
| Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
| Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Dysphagia, Abnormal nerve c... |
OMIM:619862 |
| Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
| Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis |
OMIM:104290 |
| Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... |
ORPHA:65683 |
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Involuntary movements, Increased thet... |
ORPHA:98784 |
| Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Spasticity, Li... |
OMIM:617350 |
| Combined Saposin Deficiency |
|
Generalized clonic seizure, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations |
OMIM:611721 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... |
ORPHA:254343 |
| Epilepsy, Familial Adult Myoclonic, 6 |
|
Myoclonic tremor |
OMIM:618074 |
| Hemifacial Spasm, Familial |
|
Hemifacial spasm |
OMIM:141405 |
| Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
| Myoclonus, Familial, 2 |
|
Limb myoclonus |
OMIM:618364 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Limb ataxia, Gait a... |
OMIM:614322 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... |
OMIM:611726 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:139406 |
| Hyperekplexia 4 |
|
Seizure, Hypertonia, Myoclonus, Hypsarrhythmia |
OMIM:618011 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Impulsivity... |
OMIM:619028 |
| Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, EEG with burst suppression, Spastic para... |
OMIM:612164 |
| Peho-Like Syndrome |
|
Hypsarrhythmia, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
OMIM:617507 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... |
OMIM:500003 |
| Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, A... |
OMIM:616645 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
| Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Depression, Prog... |
ORPHA:254881 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
| Posttransplant Acute Limbic Encephalitis |
|
Ataxia, EEG with abnormally slow frequencies, EEG with focal epileptiform discharges, Depression,... |
ORPHA:163921 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Aggressive behavior, Babinski sign, Euphoria, Seizure, EEG abnormality, Inappropriate behavior, D... |
OMIM:221770 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... |
OMIM:300495 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Bilateral tonic-clonic seizure, Ataxia, Choreoathetosis, Seizure, Myoclonus, Generalized myocloni... |
OMIM:301020 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Involuntary movements, Infantile spasms, Tremor, Tongue thrusting, Gait ata... |
ORPHA:3095 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abn... |
OMIM:617862 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus |
OMIM:619647 |
| Alpers-Huttenlocher Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... |
ORPHA:726 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Hyperactivity, Parkinsonism, Focal EEG discharges with sec... |
ORPHA:3077 |
| Spinocerebellar Ataxia 48 |
|
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, G... |
OMIM:618093 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Dysmetria, Gait a... |
OMIM:618090 |
| Developmental And Epileptic Encephalopathy 16 |
|
Clonic seizure, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extrapyramidal motor f... |
OMIM:615338 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Chorea, Spast... |
OMIM:618917 |
| Juvenile Huntington Disease |
|
Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Progressive cerebell... |
ORPHA:248111 |
| Dystonia 15, Myoclonic |
|
Myoclonus |
OMIM:607488 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, EEG abnormality, Irritabilit... |
ORPHA:457205 |
| Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
| Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Oral-pharyngeal dysp... |
ORPHA:208447 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor tics, Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Chorea, Cogwhee... |
OMIM:619725 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Myoclonus, Parkinsoni... |
ORPHA:314632 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Spastic diplegia, Myoclonus |
OMIM:619065 |
| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Rigidity, Seizure, Myoclonus, EEG abnormality |
OMIM:300673 |
| Developmental And Epileptic Encephalopathy 93 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetraparesis, Clonic sei... |
OMIM:618012 |
| Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h... |
ORPHA:64280 |
| Spinocerebellar Ataxia 17 |
|
Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:607136 |
| Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... |
OMIM:619428 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... |
OMIM:610042 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines |
OMIM:301076 |
| Dystonia 23 |
|
Torticollis, Myoclonus, Head tremor |
OMIM:614860 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl... |
OMIM:619301 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Infantile spasms, Focal-onset seizure, Multifocal epileptiform discharges, Myoclonus, Tetraparesi... |
OMIM:618972 |
| Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... |
ORPHA:363549 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
| Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
| Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Abnormal repetitive mannerisms, Generalized non-motor (absence) seizure, Multif... |
ORPHA:411986 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Dysp... |
OMIM:607346 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized-onset seizure, Tremor, Tongue fasciculations, Myoclonus, Dysphagia, Generalized myocl... |
OMIM:159950 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Seizure, Hypertonia, Myoclonus, Dysphagia, Spasticity |
OMIM:225753 |
| Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Ataxia, Aggressive behavior, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Seizu... |
OMIM:618356 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, EEG wi... |
ORPHA:442835 |
| Congenital Disorder Of Glycosylation, Type Iaa |
|
Appendicular spasticity, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:617082 |
| Huntington Disease |
|
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Clumsiness, Depression, Seizure,... |
ORPHA:399 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, EEG abnormality, Seizure, Status ... |
ORPHA:529665 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, Dysphagia,... |
OMIM:614487 |
| Pontocerebellar Hypoplasia Type 4 |
|
Seizure, Hypertonia, Myoclonus |
ORPHA:166063 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Bradykines... |
OMIM:300423 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... |
OMIM:610539 |
| Dystonia 6, Torsion |
|
Torticollis, Myoclonus |
OMIM:602629 |
| Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
| Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria |
ORPHA:363710 |
| Subependymal Nodular Heterotopia |
|
Interictal EEG abnormality, Focal-onset seizure, EEG with temporal focal spike waves, Seizure, EE... |
ORPHA:101030 |
| Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, EEG with persistent abnormal rhythmic activit... |
ORPHA:282166 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... |
OMIM:612016 |
| Foxg1 Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Choreoathetosis, Hyperkine... |
ORPHA:561854 |
| Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
| Lissencephaly 3 |
|
Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia, Seizure, Generalized tonic seizure |
OMIM:611603 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Epi... |
ORPHA:53583 |
| New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Seizure precipitated by febrile infection, Bilateral tonic-clonic sei... |
ORPHA:363558 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Seizure, Focal impaired awareness se... |
ORPHA:330050 |
| Lafora Disease |
|
Giant somatosensory evoked potentials, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei... |
ORPHA:501 |
| Phosphoserine Aminotransferase Deficiency |
|
Seizure, Hypertonia, Myoclonus |
OMIM:610992 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Seizure, Hypertonia, Myoclonus |
OMIM:610090 |
| Developmental And Epileptic Encephalopathy 72 |
|
Hyperkinetic movements, Dysphagia, Infantile spasms, Hypsarrhythmia |
OMIM:618374 |
| Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Seizure, Spasticity, Bilateral tonic-clonic seizure, Ataxia |
OMIM:620317 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Bilateral tonic-clonic seizure, Parkinsonism, Seizure, Abnormality of extrapyramidal motor functi... |
OMIM:204200 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl... |
OMIM:619302 |
| Severe Canavan Disease |
|
Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia, Babinski sign, Seizure, Irritability, ... |
ORPHA:314911 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seizure, Babinski sign, Spastic pa... |
ORPHA:100988 |
| Congenital Disorder Of Glycosylation, Type In |
|
Seizure, Spasticity, Ataxia, Myoclonus |
OMIM:612015 |
| Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl... |
OMIM:620352 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (abs... |
OMIM:617600 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Seizure, EEG with focal spikes, Bilateral tonic-clonic seizure, Gait ataxia |
ORPHA:488635 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Seizure, Self-injurious behavior, Hyperkinetic movements, Stereotypical hand wringing |
ORPHA:397933 |
| Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Seizure, Myoclonus, Spastic paraparesis |
ORPHA:391417 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition... |
OMIM:600795 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination... |
ORPHA:79264 |
| Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener... |
OMIM:619616 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure, EEG w... |
OMIM:614498 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... |
OMIM:619092 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Hypsarrhythmia, Myoclonic seizure, Hypertonia, A... |
OMIM:619877 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Dysphagia, Bradyk... |
ORPHA:240103 |
| Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... |
OMIM:615476 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Tongue thr... |
ORPHA:98795 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus |
ORPHA:139485 |
| Spinocerebellar Ataxia 13 |
|
Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Spas... |
OMIM:605259 |
| Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Seizure, Myoclonus, Dysmetria |
OMIM:618251 |
| Dk1-Cdg |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Multifocal epileptiform di... |
ORPHA:91131 |
| Myoclonus, Intractable, Neonatal |
|
Clonic seizure, Chorea, Athetosis, Myoclonus, Dysphagia, Impaired oral bolus formation |
OMIM:617235 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Hypsarrhythmia, Abnormality of extrapyramidal mot... |
ORPHA:204 |
| Spastic Paraplegia 82, Autosomal Recessive |
|
Focal-onset seizure, Spasticity, Babinski sign, Bilateral tonic-clonic seizure with generalized o... |
OMIM:618770 |
| Thyrocerebrorenal Syndrome |
|
Seizure, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
| Canavan Disease |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal pyramidal sign, Multifocal epileptiform... |
OMIM:271900 |
| Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Bilateral tonic-clonic seizure, Tonic seizure, Hypsarrhythmia, Myoclonic seizure, Focal impaired ... |
OMIM:619983 |
| Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
| Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
| Sulfite Oxidase Deficiency, Isolated |
|
Bilateral tonic-clonic seizure, Ataxia, Multifocal epileptiform discharges, Choreoathetosis, Hype... |
OMIM:272300 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with... |
ORPHA:163681 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Severe temper tantrums, Generalized non-motor (absence) seizure, ... |
OMIM:619854 |
| Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressive spastic paraplegia |
ORPHA:306511 |
| Brain Small Vessel Disease 2 |
|
Hemiplegia, Focal-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraplegia |
OMIM:614483 |
| Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com... |
OMIM:619338 |
| Alexander Disease |
|
Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Palatal tremor |
OMIM:203450 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Focal impaired aware... |
OMIM:620292 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Seizure, Athetosis, Irritability, Myoclonus |
OMIM:618241 |
| D-Glyceric Aciduria |
|
Bilateral tonic-clonic seizure, Tongue thrusting, Spastic tetraplegia, Hypsarrhythmia, Opisthoton... |
OMIM:220120 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:620200 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
EEG with polyspike wave complexes, Epileptic spasm, Spastic tetraparesis, EEG with focal sharp wa... |
ORPHA:284417 |
| Dystonia 26, Myoclonic |
|
Blepharospasm, Torticollis, Myoclonus, Depression |
OMIM:616398 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Epileptic spasm, Myoclonus, Hypsarrhythmia |
OMIM:619060 |
| Sarcosinemia |
|
Emotional lability, Bilateral tonic-clonic seizure, Tetraparesis, Ataxia |
ORPHA:3129 |
| Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Epileptic spasm, EEG with focal spike waves, Bilateral tonic-c... |
ORPHA:1942 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Postural tremor, Rigidity, Focal mo... |
OMIM:619911 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig... |
ORPHA:225154 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Irrita... |
ORPHA:101150 |
| Pyridoxal Phosphate-Responsive Seizures |
|
EEG with burst suppression, Seizure, Hypertonia, Status epilepticus, Myoclonus |
ORPHA:79096 |
| Developmental And Epileptic Encephalopathy 2 |
|
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Hypsarrhythmia, Seizure, Myoclo... |
OMIM:300672 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Dysmetria, Seizure, Irritability, Myoclonus, Truncal ataxia |
OMIM:250620 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
| Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Paraparesis, Babinski s... |
OMIM:606693 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Hyperactivity, Bilateral tonic-clonic seizure, Facial-lingual fasci... |
OMIM:617281 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Seizure, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:604218 |
| Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clumsiness |
ORPHA:158 |
| Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Bilateral tonic-clonic seizure, Infantile spasms |
OMIM:618470 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... |
OMIM:608049 |
| Thyrocerebroretinal Syndrome |
|
Seizure, Slurred speech, Ataxia, Myoclonus |
OMIM:274240 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Seizure, Spasticity, Ataxia, Myoclonus |
OMIM:620094 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Epileptic spasm, Hypsarrhythmia, Seizure, Myoclonus, Dysphagia |
OMIM:617669 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Clumsiness, Depression, Irritabili... |
ORPHA:66624 |
| Corticobasal Syndrome |
|
Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad... |
ORPHA:454887 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Irritability, Bilateral tonic-clonic seizure, Spastic tetraplegia |
OMIM:618237 |
| Nipah Virus Disease |
|
Tremor, Seizure, Myoclonus, Anorexia |
ORPHA:99825 |
| Aminoacylase 1 Deficiency |
|
Seizure, Hyperactivity, Bilateral tonic-clonic seizure |
OMIM:609924 |
| Developmental And Epileptic Encephalopathy 106 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Limb hyper... |
OMIM:620028 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, EEG with generalized epilepti... |
ORPHA:488613 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Limb hypertonia |
ORPHA:324588 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Babinski sign, Spastic diplegia, Spastic dysarthria, Irritability, Hypertonia, Myoclonus,... |
ORPHA:401866 |
| Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Choreoathetosis, EEG abnormality, Self-injurious behavior, Hyperki... |
OMIM:618218 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Hypsarrhythmi... |
OMIM:600721 |
| Developmental And Epileptic Encephalopathy 66 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... |
OMIM:618067 |
| Narp Syndrome |
|
Ataxia, Babinski sign, Seizure, Progressive gait ataxia, Irritability, Myoclonic spasms |
ORPHA:644 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Abnormal eating behavior, To... |
ORPHA:98794 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non... |
OMIM:300558 |
| Alzheimer Disease 3 |
|
Spastic tetraparesis, Babinski sign, Dysphagia, Seizure, Abnormality of extrapyramidal motor func... |
OMIM:607822 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
| Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... |
OMIM:619881 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Spasticity |
OMIM:617284 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Interictal EEG abnormality, Restlessness, Bilateral tonic-clonic seizure, Infantile spasms, EEG w... |
ORPHA:544503 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ataxia, Myoclonic seizure, Seizure, Myoclonus, Spasticity |
OMIM:618225 |
| Alexander Disease Type I |
|
Ataxia, Abnormal pyramidal sign, Spasticity, Seizure, Dysphagia, Palatal tremor |
ORPHA:363717 |
| Spinocerebellar Ataxia Type 36 |
|
Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Dysphagia, Tongue fas... |
ORPHA:276198 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
OMIM:615637 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Rigidity, Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia |
OMIM:203740 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
| Developmental And Epileptic Encephalopathy 79 |
|
Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My... |
OMIM:618559 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... |
ORPHA:391411 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Bilateral tonic-clonic seizure, Spastic paraplegia, Dysmetria, Gait ataxia, Spastic gait |
OMIM:615031 |
| Schindler Disease, Type I |
|
Seizure, Spasticity, Myoclonus |
OMIM:609241 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depr... |
OMIM:137440 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Sei... |
ORPHA:363400 |
| Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa... |
OMIM:616281 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Bilateral tonic-clonic seizure with generalized onset, Hypsarrhythmia, Myoclonic seizure, Seizure... |
OMIM:619076 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Generalized non-motor... |
OMIM:618170 |
| Gaucher Disease, Type Iii |
|
Ataxia, Depression, Myoclonus, Spastic paraparesis, Generalized myoclonic seizure |
OMIM:231000 |
| Early Infantile Epileptic Encephalopathy |
|
Tremor, Choreoathetosis, Hyperactivity, EEG with burst suppression, Hypsarrhythmia, Seizure, EEG ... |
ORPHA:1934 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasticity |
OMIM:618201 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations, Abnormality of peripheral nerve conduction |
ORPHA:65684 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:250972 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Bilateral tonic-clonic seizure, Chorea, Multifocal epileptiform discharges, Opisthotonus, Status ... |
OMIM:616672 |
| Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spastic ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Rigidity, Abnormal pyramidal... |
ORPHA:199354 |
| Abeta Amyloidosis, Iowa Type |
|
Myoclonus, Dysphagia |
ORPHA:324708 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Cerebral palsy, Bilateral tonic-clonic seizure with generalized onset, Chorea, Babinski sign, Cho... |
OMIM:618451 |
| Chromosome 22Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ... |
OMIM:615538 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy... |
OMIM:616973 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Vocal tremor |
ORPHA:420485 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Depression, Seizure, Hyperkinetic movements, Upper limb s... |
ORPHA:457240 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Seizure, Irritability, Hyperkinetic movements, Dysphagia, Limb... |
OMIM:233910 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Tonic seizure, Aggressive b... |
OMIM:619580 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Epileptic spasm, Vocal cord paralysis, Hypsarrhythmia, Seizure, Myoclonus, Dysphagia, Spasticity |
ORPHA:500144 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Tonic seizure, Spastic t... |
OMIM:615851 |
| Spinocerebellar Ataxia 10 |
|
Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Dysp... |
OMIM:603516 |
| Infantile Cerebellar-Retinal Degeneration |
|
Focal-onset seizure, Athetosis, Bilateral tonic-clonic seizure, Ataxia |
OMIM:614559 |
| Riboflavin Transporter Deficiency |
|
Ataxia, Aggressive behavior, Tremor, Seizure, Myoclonus, Dysphagia |
ORPHA:97229 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Seizure, Hypertonia, Agitation, Myoclonus, Disinhibition, Apraxia, Oculomot... |
ORPHA:1020 |
| Peho Syndrome |
|
Seizure, Myoclonus, Hypsarrhythmia |
OMIM:260565 |
| X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Babinski sign, Slurred speech, ... |
ORPHA:93952 |
| Sialidosis Type 1 |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Slurred speech, Seizure, EEG abnormality, My... |
ORPHA:812 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Irritability, Spasticity, Bilateral tonic-clonic seizure, Focal motor seizure |
OMIM:618235 |
| Spinocerebellar Ataxia 2 |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, Limb ataxia, Bradykine... |
OMIM:183090 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Seizure, Fasciculations, Generaliz... |
ORPHA:464282 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Impulsivity, Paraparesis, Oromotor apraxia, Clumsiness, Bradykines... |
OMIM:617854 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Impaired oropharyngeal swallow ... |
ORPHA:53351 |
| Cln3 Disease |
|
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Fo... |
ORPHA:228346 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Seizure, Bradykine... |
OMIM:618877 |
| Developmental And Epileptic Encephalopathy 61 |
|
Seizure, Spasticity, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:617933 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Rigidity, Myoclonus |
OMIM:619057 |
| Hereditary Hyperekplexia |
|
Ataxia, Rigidity, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity |
ORPHA:3197 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Spasticity, Opisthotonus, Seizure, Hy... |
OMIM:619847 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im... |
OMIM:300607 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Babinski sign, Seizure, Myoclonus, Truncal ataxia, Spasticity |
OMIM:252011 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Bilateral tonic-clonic seizure |
OMIM:240900 |
| Den Hoed-De Boer-Voisin Syndrome |
|
EEG with focal spike waves, Tremor, Abnormal repetitive mannerisms, Ataxia, Stereotypical hand wr... |
OMIM:619229 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
| Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Focal ton... |
ORPHA:314655 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Seizure, Spasticity, Myoclonus, EEG abnormality |
OMIM:246450 |
| Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Oculomotor apraxia, Freque... |
ORPHA:251347 |
| Angelman Syndrome |
|
Hyperactivity, Ataxia, Infantile spasms, Aggressive behavior, Tremor, Tongue thrusting, Polyphagi... |
ORPHA:72 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Bilateral tonic-clonic seizure, Involuntary movements, Myoclonic seizure, Seizure, Bruxism |
OMIM:615716 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa... |
ORPHA:98810 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, EEG wi... |
ORPHA:457351 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Morning myoclonic jerks |
ORPHA:2898 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, H... |
ORPHA:447997 |
| Hyperekplexia 1 |
|
Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures |
OMIM:149400 |
| Unilateral Polymicrogyria |
|
Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, S... |
ORPHA:268943 |
| Microcephaly, Amish Type |
|
Irritability, Myoclonus, Limb hypertonia |
OMIM:607196 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hypertonia, Myoclonus, Myoclonic seizure |
OMIM:618240 |
| Isaacs Syndrome |
|
EEG abnormality, Fasciculations |
ORPHA:84142 |
| Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Opisthotonus, Gait ataxia, Seizure, Myoclonus, Inappropriate ... |
OMIM:103050 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Seizure, Lim... |
ORPHA:101 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor fun... |
ORPHA:79279 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, T... |
OMIM:300912 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon... |
ORPHA:309155 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Self-mutilation, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges |
ORPHA:453510 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap... |
OMIM:618060 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, EEG with focal sharp waves, Hypsarrhyth... |
ORPHA:79243 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... |
OMIM:617282 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Infantile spasms, Aggressive behavior, Chorea, Spastic tetraplegia, Hypsarrhythmia, Gait ... |
OMIM:618321 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Choreoathetosis, Seizure, Myoclonus, Episodic ataxia |
OMIM:312170 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Decreased nerve conduction... |
ORPHA:206436 |
| Spinocerebellar Ataxia Type 13 |
|
Torticollis, Limb ataxia, Titubation, Clumsiness, Seizure, Gait ataxia, Bradykinesia, Myoclonus, ... |
ORPHA:98768 |
| Developmental And Epileptic Encephalopathy 101 |
|
Seizure, Myoclonus, Opisthotonus |
OMIM:619814 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Myoclonic seizure, Seizu... |
OMIM:618325 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus, Dysphagia |
OMIM:619780 |
| Alexander Disease Type Ii |
|
Ataxia, Rigidity, Babinski sign, Spasticity, Dysphagia, Spastic paraparesis, Palatal tremor |
ORPHA:363722 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Spasticity, Seizure, Status... |
OMIM:612949 |
| Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Seizure, Progressive cerebellar ataxia, Progressive gait a... |
ORPHA:101112 |
| Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Myoclonus, G... |
OMIM:616640 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Aggressive behavior |
OMIM:616083 |
| Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramidal sign, Choreoathetosis, At... |
ORPHA:2131 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
EEG abnormality, Seizure, Myoclonus, Myoclonic seizure |
OMIM:614946 |
| D-Glyceric Aciduria |
|
Seizure, Chorea, Myoclonus, Spasticity |
ORPHA:941 |
| Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
| Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
| Dystonia 34, Myoclonic |
|
Torticollis, Myoclonus, Hand tremor, Head tremor |
OMIM:619724 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Ataxia, Clonus, Infantile spasms, Babinski sign, Hypsarrhythmia, Myoclonic seizure, Seizure, Opis... |
OMIM:618076 |
| Early-Onset Lafora Body Disease |
|
Seizure, Ataxia, Myoclonus, Spastic tetraparesis |
ORPHA:324290 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus |
OMIM:614652 |
| Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Spastic paraparesis, Palatal tremor, Truncal ataxia |
OMIM:113610 |
| Houge-Janssens Syndrome 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:618354 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Bilateral tonic-clonic seizure, Weakness due to upper ... |
ORPHA:79139 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... |
ORPHA:466722 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Se... |
ORPHA:309246 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Babinski sign, Tongue thrusting, Limb tremor, Choreoat... |
OMIM:608643 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
| Migraine, Familial Hemiplegic, 2 |
|
Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,... |
OMIM:602481 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Babinski sign, Seizure, Status epilepticus, ... |
ORPHA:364028 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Hypertonia, Myoclonus, Intention tremor |
OMIM:616505 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Ataxia, Incoordina... |
ORPHA:480864 |
| Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Gait apraxia, EEG with focal sharp waves, Dysmetria, Seizure, Athetosis, H... |
OMIM:617302 |
| Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic paraparesis, Depression,... |
ORPHA:329308 |
| Serotonin Syndrome |
|
Restlessness, Clonus, Tremor, Rigidity, Seizure, Irritability, Hypertonia, Agitation, Myoclonus |
ORPHA:43116 |
| Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggressive behavior, Tr... |
OMIM:612953 |
| Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Seizure, Myoclonus |
OMIM:616158 |
| Nmda Receptor Encephalitis |
|
Generalized-onset seizure, Involuntary movements, Rigidity, Focal-onset seizure, EEG with tempora... |
ORPHA:217253 |
| Juvenile Sialidosis Type 2 |
|
Lower limb spasticity, Ataxia, Dysmetria, Seizure, Myoclonus, Dysphagia, Generalized myoclonic se... |
ORPHA:93399 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Rigidity, Opisthotonus, Depression, Myoclonic spasms, Frequent falls |
OMIM:184850 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hemiparesis, Bilateral tonic-clonic seizure |
OMIM:540000 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Tremor, Typical absence seizure, Dysphagia, Dysmetr... |
ORPHA:845 |
| Mepan Syndrome |
|
Ataxia, Chorea, Myoclonus, Dysphagia, Spasticity |
ORPHA:508093 |
| Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Myoclonus, Dysphagia |
OMIM:168601 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, Involuntary movements, Generalized non-motor (absence) seizure, E... |
OMIM:617798 |
| Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Dysphagi... |
ORPHA:171695 |
| Gerstmann-Straussler-Scheinker Syndrome |
|
Limb myoclonus, Abnormality of extrapyramidal motor function, Gait ataxia |
ORPHA:356 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617468 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Tremor, Polyminimyoclonus, Fasciculations, Dysphagia, Vocal cord paresis |
OMIM:619574 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Spasticity |
OMIM:614299 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic m... |
OMIM:619738 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... |
OMIM:619835 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Spastic paraplegia, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Tongue... |
OMIM:614969 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... |
OMIM:613135 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure, Head-banging |
OMIM:619356 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic paraplegia, Seizure, Athetosis, Focal imp... |
ORPHA:369929 |
| Neuraminidase Deficiency |
|
Seizure, Slurred speech, Myoclonus, Dysmetria |
OMIM:256550 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, Abnormal... |
ORPHA:445038 |
| Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk... |
ORPHA:157846 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrapyramidal motor func... |
OMIM:605711 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Ataxia, Photosensitive tonic-clonic seizure, Truncal ataxia, Dysphagia, Seizure, Hyperkinetic mov... |
OMIM:300243 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Multifocal epileptiform discharges, Genera... |
OMIM:615398 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Spastic tetraplegia, Seizure, Myoclonus |
OMIM:614462 |
| Hermansky-Pudlak Syndrome 10 |
|
EEG abnormality, Bilateral tonic-clonic seizure, Focal myoclonic seizure |
OMIM:617050 |
| Cog8-Cdg |
|
Seizure, Ataxia, Myoclonus |
ORPHA:95428 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Tremor, Seizure, Status epilepticus, Myoclonus, Dysphagia, Right hemiplegia |
OMIM:607426 |
| Ritscher-Schinzel Syndrome 4 |
|
Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Aggressive behavior, Focal-onset seizure, Ch... |
OMIM:619435 |
| Bilateral Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis,... |
ORPHA:268940 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism |
OMIM:616351 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Hoffmann sign, Dysmetria, Dys... |
ORPHA:139396 |
| Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Low ... |
ORPHA:646 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Bilateral tonic-clonic seizure |
OMIM:618120 |
| Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypertonia, Generalized myoclonic seiz... |
OMIM:615501 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Spastic... |
ORPHA:79351 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Seizure, Spasticity, Hypertonia, Myoclonus |
ORPHA:3078 |
| Lissencephaly Due To Tuba1A Mutation |
|
Focal-onset seizure, Spasticity, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:171680 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Seizure, Myoclonus, Oc... |
ORPHA:247262 |
| Microcephaly-Capillary Malformation Syndrome |
|
Seizure, Spastic tetraparesis, Myoclonus, Infantile spasms |
OMIM:614261 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Irritability, Spasticity, F... |
ORPHA:481152 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my... |
OMIM:613839 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Torticollis, Myoclonus, Head tremor, Limb tremor |
ORPHA:420492 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Bilateral tonic-clonic seizure |
OMIM:619278 |
| Dystonia-Aphonia Syndrome |
|
Seizure, Myoclonus, Dysphagia |
ORPHA:412217 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Depression, Seizure, Hyperkinetic movements, Spasticity |
OMIM:300957 |
| Choreoacanthocytosis |
|
Chorea, Hypertonia, Compulsive behaviors, Decreased amplitude of sensory action potentials, Self-... |
ORPHA:2388 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) se... |
OMIM:620224 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Anorexia, Spastic hemiparesis, Hypsarrhythmia, EEG abnormality, Seizure, Myoclonus, Spast... |
ORPHA:20 |
| Fatal Familial Insomnia |
|
Ataxia, Myoclonus, Dysphagia |
OMIM:600072 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Myoclonus |
ORPHA:168593 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Appendicular spasticity, Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myo... |
OMIM:620070 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Seizure, Depression, Myoclonus, Gait ataxia |
ORPHA:70595 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Opisthotonus, Choreoathetosis, Seizure, Hyperkinetic movements, Myoclonus, Spasti... |
OMIM:616271 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Bilateral tonic-clonic seizure, Infantile spasms, Decreased ... |
OMIM:618733 |
| Caribbean Parkinsonism |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... |
ORPHA:97355 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Intention tremor, Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:618381 |
| Developmental And Epileptic Encephalopathy 95 |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, EEG with burst ... |
OMIM:618143 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Generalized-onset seizure, Postural tremor, Action tremor, Gait ataxia, Myoclonus, Dysphagia, Int... |
OMIM:254900 |
| Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:614231 |
| Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Involuntary movements, Oral-pharyngeal dysphagia, Chorea, Dysmetria, Myoclonic seiz... |
OMIM:615273 |
| Autoimmune Hypoparathyroidism |
|
Irritability, Myoclonic spasms, Hypocalcemic seizures, Depression |
ORPHA:36913 |
| Galloway-Mowat Syndrome 10 |
|
Myoclonus |
OMIM:619609 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Seizure, Hypertonia, Hyperkinetic movements |
OMIM:236270 |
| 3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Hypertonia, Bilateral tonic-clonic seizure |
ORPHA:79350 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generalized n... |
ORPHA:395 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Vocal cord pa... |
OMIM:617799 |
| Pelger-Huet Anomaly |
|
Seizure, Lower limb hypertonia, Bilateral tonic-clonic seizure |
OMIM:169400 |
| Combined Oxidative Phosphorylation Deficiency 57 |
|
Seizure, Myoclonus |
OMIM:620167 |
| Sandhoff Disease |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Ataxia, Myoclonic seizure, Fascicul... |
OMIM:268800 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Tetraplegia, Spasticity, Fasciculations, Progressive spas... |
ORPHA:496641 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Toni... |
OMIM:620024 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis... |
OMIM:615474 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Irritability, Hyperto... |
OMIM:252160 |
| Whipple Disease |
|
Ataxia, Anorexia, Abnormal pyramidal sign, Depression, Seizure, Myoclonus, Polydipsia |
ORPHA:3452 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Infantile spasms, Action tremor, Chorea, Oculomotor apraxia, Focal tonic seizure, Generalized non... |
ORPHA:404454 |
| Amish Lethal Microcephaly |
|
Irritability, Bilateral tonic-clonic seizure, Limb hypertonia |
ORPHA:99742 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor (absence) seizure, Hypertoni... |
OMIM:615802 |
| Cerebrotendinous Xanthomatosis |
|
Resting tremor, Ataxia, Parkinsonism, Abnormal auditory evoked potentials, Aggressive behavior, D... |
ORPHA:909 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
ORPHA:42 |
| Melas |
|
Abnormal central motor function, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Dep... |
ORPHA:550 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Seizure... |
ORPHA:391428 |
| Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Incoordination, Ataxia, Involuntary movements, Abnormal eating behavior, Chorea, A... |
ORPHA:209905 |
| Microtriplication 11Q24.1 |
|
Speech apraxia, Seizure, Hyperkinetic movements, Bruxism |
ORPHA:289522 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Chorea, Bilateral tonic-clonic seizure, Truncal ataxia |
ORPHA:369840 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Lower limb spasticity, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Seizure, Upper li... |
OMIM:617193 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Seizure, Myoclonus, Tongue fasciculations |
OMIM:614922 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Ataxia, Decreased nerve conduction velocity, Sp... |
OMIM:609136 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Generalized-onset seizure, Infantile spasms, Seizure, Athetosis, Hyperkinetic movements, Irritabi... |
OMIM:612073 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Seizure, Chorea, Hyperkinetic movements, Truncal ataxia |
ORPHA:369847 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Bilateral tonic-clonic seizure, Clonus, Spastic tetraparesis, Babinski sign, Limb hypertonia |
ORPHA:423479 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Myoclonus |
OMIM:560000 |
| Developmental And Epileptic Encephalopathy 89 |
|
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, EEG with burst suppressio... |
OMIM:619124 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Seizure, Ataxia, Myoclonus |
OMIM:619167 |
| 3P25.3 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Attention defici... |
ORPHA:435638 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:478029 |
| Congenital Sialidosis Type 2 |
|
Ataxia, Dysmetria, Seizure, Myoclonus, Spasticity |
ORPHA:93400 |
| Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Choreoat... |
OMIM:617988 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Seizure, Polyphagia, Myoclonus |
ORPHA:251004 |
| 9P13 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Myoclonus, Hand tremor, Bruxism |
ORPHA:324313 |
| Warburg Micro Syndrome 3 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, An... |
OMIM:614222 |
| Orofaciodigital Syndrome Type 3 |
|
Oculomotor apraxia, Spasticity, Myoclonus, Focal seizure with eyelid myoclonia |
ORPHA:2752 |
| Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... |
OMIM:301091 |
| Glass Syndrome |
|
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Freque... |
OMIM:612313 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ataxia, Babinski sign, Dysmetria, Gait ataxia, Depression, Seizure, Progressive gait ataxia, Myoc... |
OMIM:607459 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Ataxia, Narcolepsy, Depression, Cataplexy, Spasticity |
OMIM:604121 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... |
OMIM:614207 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Clonus, Spastic tetraplegia, Seizure, Status epilepticus, Myoclonus |
OMIM:619055 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:618316 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Ataxia, Tremor, Chorea, Seizure, EEG abnormality, Athetosis, Hyperkinetic movemen... |
OMIM:615356 |
| Opsoclonus-Myoclonus Syndrome |
|
Ataxia, Rigidity, Irritability, Myoclonus, Limb myoclonus |
ORPHA:1183 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Ataxia, Babinski sign, Gait ataxia, Seizure, Hyperkinetic movements, Spasticity |
OMIM:620089 |
| Bone Marrow Failure Syndrome 5 |
|
Bilateral tonic-clonic seizure |
OMIM:618165 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:620300 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Ataxia, Narcolepsy, Babinski sign, Depression, Head tremor, Spasticity |
ORPHA:314404 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Bilateral tonic-clonic seizure, Ataxia, Seizure, Hypertonia, Myoclonus, Spasticity |
OMIM:618426 |
| W Syndrome |
|
Spasticity, Bilateral tonic-clonic seizure |
ORPHA:2804 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ataxia, Postural tremor, Babinski sign, Seizure, Lower limb hypertonia, Status epilepticus, Myocl... |
OMIM:301072 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:600092 |
| Biotinidase Deficiency |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Focal motor seizure, Seizure, Spastic p... |
ORPHA:79241 |
| Orofaciodigital Syndrome Iii |
|
Myoclonus |
OMIM:258850 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Seizure, Spasticity, Babinski sign, Hyperkinetic movements |
OMIM:616420 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat... |
ORPHA:522077 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Spastic tetraparesis, Foca... |
OMIM:301044 |
| Ataxia-Telangiectasia |
|
Ataxia, Tremor, Slurred speech, Choreoathetosis, Seizure, Progressive cerebellar ataxia, Dysdiado... |
OMIM:208900 |
| Kinsship Syndrome |
|
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ... |
OMIM:619297 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Chorea, Gait ataxia, Seizure, Hypertoni... |
ORPHA:255210 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic seizures, Myoclonic spasms |
ORPHA:94090 |
| Farber Disease |
|
Infantile spasms, Paraparesis, Seizure, Myoclonus, Spasticity |
ORPHA:333 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:300578 |
| Ethylene Glycol Poisoning |
|
Ataxia, Slurred speech, Euphoria, Seizure, Addictive alcohol use, Myoclonus |
ORPHA:31826 |
| Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Myoclonus |
OMIM:256700 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Bilateral tonic-clonic seizure |
OMIM:201475 |
| Narcolepsy 3 |
|
Cataplexy, Narcolepsy |
OMIM:609039 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Multifocal epileptiform ... |
ORPHA:369837 |
| Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... |
ORPHA:306674 |
| X-Linked Intellectual Disability, Snyder Type |
|
Involuntary movements, Focal motor seizure, EEG abnormality, Myoclonus, Generalized myoclonic sei... |
ORPHA:3063 |
| Narcolepsy 1 |
|
Cataplexy, Narcolepsy |
OMIM:161400 |
| Immunodeficiency 23 |
|
Ataxia, Myoclonus, Cortical myoclonus |
OMIM:615816 |
| Oromandibular Dystonia |
|
Torticollis, Dysphagia, Depression, Blepharospasm, Hyperkinetic movements, Bruxism |
ORPHA:93958 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure |
ORPHA:3044 |
| De Sanctis-Cacchione Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Scissor gait, Choreoathetosis, Hypertonia,... |
OMIM:278800 |
| Weaver Syndrome |
|
Bilateral tonic-clonic seizure, Slurred speech, Generalized non-motor (absence) seizure, Poor fin... |
OMIM:277590 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Poor coordination, Generalized non-motor (ab... |
ORPHA:466943 |
| 1Q44 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:238769 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Seizure, Myoclonic spasms |
OMIM:252150 |
| Sialuria |
|
Seizure, Hyperkinetic movements, Attention deficit hyperactivity disorder |
ORPHA:3166 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Myoclonus |
ORPHA:1352 |
| Poliomyelitis |
|
Abnormal motor nerve conduction velocity, Paralysis, Anorexia, Paraparesis, Irritability, Hyperki... |
ORPHA:2912 |
| D-Bifunctional Protein Deficiency |
|
Decreased nerve conduction velocity, Seizure, Bilateral tonic-clonic seizure |
OMIM:261515 |
| Leigh Syndrome |
|
Ataxia, Involuntary movements, Infantile spasms, Chorea, Spastic diplegia, Hypsarrhythmia, Choreo... |
ORPHA:506 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Epilepsia partialis continua, Ataxia, Paralysis, Hypertonia, Status epilepticus, Myoclonus, Tetra... |
OMIM:203700 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Aggressive behavior, Choreoathetosis, Seizure, Hypertonia, Hyperkinetic movements, Myoclonus |
ORPHA:17 |
| Narcolepsy 7 |
|
Cataplexy, Narcolepsy |
OMIM:614250 |
| Holoprosencephaly 14 |
|
EEG abnormality, Bilateral tonic-clonic seizure |
OMIM:619895 |
| Cocaine Intoxication |
|
Bilateral tonic-clonic seizure, Involuntary movements, Tremor, Focal-onset seizure, Atypical abse... |
ORPHA:90068 |
| Pseudohypoparathyroidism Type 1B |
|
Irritability, Myoclonic spasms, Hypocalcemic seizures, Depression |
ORPHA:94089 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Seizure, Bilateral tonic-clonic seizure with focal onset, Dysphagia, Aggressive behavior |
ORPHA:488627 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz... |
ORPHA:466950 |
| Webb-Dattani Syndrome |
|
Spasticity, Bilateral tonic-clonic seizure |
OMIM:615926 |
| Pgm3-Cdg |
|
Seizure, Ataxia, Myoclonus, Cortical myoclonus |
ORPHA:443811 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Narcolepsy, Depression, Seizure, Self-injurious behavior, Compulsive behavio... |
ORPHA:293987 |
| Autosomal Dominant Hypocalcemia |
|
Depression, Emotional lability, Cortical myoclonus |
ORPHA:428 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Bilateral tonic-clonic seizure |
ORPHA:436159 |
| Joubert Syndrome 1 |
|
Hemifacial spasm, Hyperactivity, Ataxia, Aggressive behavior, Oculomotor apraxia, Self-mutilation |
OMIM:213300 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Abnormal repetitive mannerisms, Seizure, Spasticity, Bilateral tonic-clonic seizure |
OMIM:301040 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Self-injurious b... |
OMIM:619512 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:73224 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Seizure, Spasticity, Myoclonus, EEG abnormality |
OMIM:253280 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Seizure, Irritability, Myoclonus, Tetraplegia |
OMIM:618278 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Atonic seizure, Bilateral tonic-clonic seizure |
ORPHA:2976 |
| Lathosterolosis |
|
Seizure, Myoclonus |
ORPHA:46059 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hemiparesis, Paraparesis, Bilateral tonic-clonic seizure, Paraplegia |
ORPHA:79124 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Increased theta frequency activity i... |
ORPHA:459070 |
| Scorpion Envenomation |
|
Restlessness, Hemifacial spasm, Ataxia, Tremor, Seizure, Hyperkinetic movements, Myoclonus |
ORPHA:466677 |
| Lujo Hemorrhagic Fever |
|
Seizure, Bilateral tonic-clonic seizure, Resting tremor, Dysphagia |
ORPHA:319213 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Tetraplegia |
OMIM:257300 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Tremor, Seizure, Bilateral tonic-clonic seizure, Ataxia |
OMIM:610505 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Generalized-onset seizure, Atonic seizure, Truncal ataxia, Bilateral tonic-clonic seizure |
OMIM:620066 |
| Listeriosis |
|
Ataxia, Tremor, Hemiparesis, Seizure, Irritability, Myoclonus |
ORPHA:533 |
| X Small Rings |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:96201 |
| Pseudohypoparathyroidism Type 1C |
|
Depression, Irritability, Myoclonic spasms, Polyphagia, Hypocalcemic seizures |
ORPHA:79444 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Generalized myoclonic... |
OMIM:614756 |
| Episodic Ataxia Type 7 |
|
Episodic ataxia, Hyperkinetic movements |
ORPHA:209970 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pulling, Polyphagia, Gener... |
OMIM:620330 |
| Pseudohypoparathyroidism Type 1A |
|
Involuntary movements, Depression, Choreoathetosis, Irritability, Myoclonic spasms, Polyphagia, H... |
ORPHA:79443 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremor, Abnormal pyramid... |
OMIM:614947 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non-motor (absence) s... |
ORPHA:513456 |
| Oliver Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:2920 |
| Tick-Borne Encephalitis |
|
Speech apraxia, Generalized-onset seizure, Incoordination, Anorexia, Paralysis, Tremor, Focal-ons... |
ORPHA:297 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Tremor, Irritability, Hyperkinetic movements, Emotional lability, Polydipsia, Poly... |
ORPHA:525731 |
| African Trypanosomiasis |
|
Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Aggressive behavior, N... |
ORPHA:3385 |
| Pontocerebellar Hypoplasia Type 7 |
|
Involuntary movements, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity |
ORPHA:284339 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal fear-induced behavior, Agitation, Restlessness, Depression |
ORPHA:100924 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Typical absence seizure, Seizure, Hy... |
ORPHA:268261 |
| Hallermann-Streiff Syndrome |
|
Choreoathetosis, Hyperactivity, Bilateral tonic-clonic seizure |
OMIM:234100 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Apraxia |
ORPHA:99885 |
| Gaucher Disease |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Hemiplegia/hemiparesis, Oculomotor apraxia, Depre... |
ORPHA:355 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Tongue fasciculations, Spasticity |
OMIM:252010 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Epileptic spasm, Exaggerated startle response, Involuntary movements, Seizure, Myoclonus, Dysphag... |
ORPHA:438213 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Bilateral tonic-clonic seizure, Gait ataxia, Myoclonic seizure, Seizure, Violent behavior |
OMIM:280000 |
| Doors Syndrome |
|
EEG abnormality, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure |
ORPHA:79500 |
| Meningioma |
|
Hemifacial spasm, Abnormal central motor function, Ataxia, Focal-onset seizure, Hemiparesis, Seiz... |
ORPHA:2495 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Self-in... |
ORPHA:353281 |
| Ogden Syndrome |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Irritability, Hypertonia,... |
OMIM:300855 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Abnormal pyramidal sign, Seizure, Self-injurious behavior, Hypertonia, Hyperkinetic movements, Sp... |
ORPHA:468631 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Bilateral tonic-clonic seizure, Gait ataxia |
ORPHA:457359 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Seizure, Self-in... |
OMIM:612474 |
| Hartsfield Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:615465 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Self-in... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Self-in... |
ORPHA:353277 |
| Orofaciodigital Syndrome Type 2 |
|
Bilateral tonic-clonic seizure |
ORPHA:2751 |
| Sotos Syndrome |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Poor coordination, Generalized non-m... |
ORPHA:821 |
| Kabuki Syndrome 1 |
|
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:147920 |
